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Akademický článek

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

Autor: Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Abstract Background Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic pathogenic v

Externí odkaz: https://doaj.org/article/6ac38c7fa9f14d61b64cd6989fb1fc29

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Akademický článek

Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor

Publikováno v: The Journal of Clinical Investigation, Vol 132, Iss 3 (2022)

Desmoglein 1 (Dsg1) is a cadherin restricted to stratified tissues of terrestrial vertebrates, which serve as essential physical and immune barriers. Dsg1 loss-of-function mutations in humans result in skin lesions and multiple allergies, and isolate

Externí odkaz: https://doaj.org/article/d068468a139f45248652e5280fb391cf

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Akademický článek

LEPOARD syndrome: A report of a case with a novel PTPN11 mutation

Autor: Nader Rahal, MD, Amir Sadi, MD, Eran Cohen-Barak, MD, Michael Ziv, MD, Judit Krausz, MD, Roni P. Dodiuk-Gad, MD

Publikováno v: JAAD Case Reports, Vol 11, Iss , Pp 57-59 (2021)

Externí odkaz: https://doaj.org/article/8b6b2a3bdce240f4ae8d2de20268af3f

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Akademický článek

Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans

Autor: Eran Cohen-Barak, Nada Danial-Farran, Helwa Hammad, Ola Aleme, Judith Krauz, Ester Gavish, Morad Khayat, Michael Ziv, Stavit Shalev

Publikováno v: Acta Dermato-Venereologica, Vol 98, Iss 8, Pp 809-810 (2018)

Externí odkaz: https://doaj.org/article/bb78a597b2704d39b1bc61dfcfec2228

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Akademický článek

Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease

Autor: Tamar Canello, Yael Friedman-Levi, Michal Mizrahi, Orli Binyamin, Eran Cohen, Kati Frid, Ruth Gabizon

Publikováno v: Neurobiology of Disease, Vol 45, Iss 3, Pp 1010-1017 (2012)

The pathogenesis of the diverse forms of prion disease was attributed solely to the accumulation of the misfolded PrP forms, and not to the potential loss of normal PrPC function during disease propagation. In this respect, it was also not establishe

Externí odkaz: https://doaj.org/article/3385439e58c84852805bb8807715b77e

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Akademický článek

Snord 3A: a molecular marker and modulator of prion disease progression.

Autor: Eran Cohen, Dana Avrahami, Kati Frid, Tamar Canello, Ephrat Levy Lahad, Sharon Zeligson, Shira Perlberg, Joab Chapman, Oren S Cohen, Esther Kahana, Iris Lavon, Ruth Gabizon

Publikováno v: PLoS ONE, Vol 8, Iss 1, p e54433 (2013)

Since preventive treatments for prion disease require early identification of subjects at risk, we searched for surrogate peripheral markers characterizing the asymptomatic phases of such conditions. To this effect, we subjected blood mRNA from E200K

Externí odkaz: https://doaj.org/article/f31ac107c2e44d45927030408ecbeb51

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Elektronická kniha

Conditional Structures in Mesopotamian Old Babylonian

Autor: Eran Cohen

This volume examines conditional structures in Old Babylonian from a linguistic point of view, drawing on a corpus of letters, law collections, and omens. All of the conditional patterns are provided with a syntactic characterization, so that each co

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Akademický článek

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